CORDIS Project
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This project investigates a rare mitochondrial condition characterized by reversible cytochrome c oxidase deficiency. It aims to understand the genetic mutation's impact on mitochondrial function and explore potential compensatory mechanisms that allow for spontaneous recovery in affected patients.
We have recently identified the molecular genetic cause of a puzzling clinical syndrome, initially termed “benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase (COX) deficiency”.
While childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions with fatal outcome, this syndrome stands out by showing complete (or almost complete) spontaneous recovery.
We have detected the homoplasmic m.14674T>C mutation in the mitochondrial m…
UNIVERSITY OF NEWCASTLE UPON TYNE
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